Fast Five Quiz: Diagnosis of Inherited Retinal Diseases

Donny W. Suh, MD, MBA;  Raj K. Maturi, MD


March 31, 2023

Inherited retinal diseases (IRDs) are a heterogeneous group of genetic degenerative disorders of the retina and affect > 2 million people worldwide. Mutations in genes that are responsible for retinal function can lead to vision impairment and, in some cases, blindness. IRDs are inherited in autosomal dominant, autosomal recessive, mitochondrial, or X-linked patterns with varying penetrance, resulting in a highly variable clinical course.

In the clinical setting, a variety of symptoms may suggest an inherited retinal disease, particularly when the symptoms cannot be explained by other diseases. A detailed medical history including family pedigree, functional limitations, and medication history can support an initial suspicion of IRD and may guide further examinations. The genetic heterogeneity of IRD makes diagnosis challenging; however, patients who receive a definitive diagnosis are better able to prepare for the interpersonal, social, and occupational impacts of their disease. The management of IRD is largely symptomatic, but promising advances in targeted therapies have led to new and emerging treatment options.

How familiar are you with IRDs? Test your knowledge with this quick quiz.


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